Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration

Hany Ezzeldin, Robert Diasio

Research output: Contribution to journalReview article

115 Scopus citations

Abstract

Dihydropyrimidine dehydrogenase (DPD) deficiency is a pharmacogenetic syndrome associated with potentially life-threatening toxicity following the administration of standard doses of 5-fluorouracil.This syndrome derives its importance from the fact that approximately 2 million patients receive the drug worldwide each year. Population studies have suggested that 4%-7% of the American population exhibit dose-limiting toxicity that might be associated with a genetic defect in the DPYD gene that encodes for the DPD enzyme. During the past several years it has become increasingly clear that genetics is a major determinant of the variability in drug response, accounting for the probability of drug efficacy and the likelihood of toxic drug reactions.This article briefly discusses the clinical presentation, laboratory diagnosis, pharmacokinetics, inheritance, and the clinical management options of DPD deficiency. The variability of DPD enzyme activity in population studies and the different DPYD alleles together with new phenotypic and genotypic methods of screening for DPD deficiency will also be reviewed.

Original languageEnglish (US)
Pages (from-to)181-189
Number of pages9
JournalClinical colorectal cancer
Volume4
Issue number3
DOIs
StatePublished - Sep 2004

Keywords

  • Adverse drug reactions
  • DPYD gene
  • Pharmacogenomics

ASJC Scopus subject areas

  • Oncology
  • Gastroenterology

Fingerprint Dive into the research topics of 'Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration'. Together they form a unique fingerprint.

  • Cite this